Canonical Allele Identifier: CA454247075

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651811A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612195A>G , CM000669.2:g.30612195A>G	GRCh38
NC_000007.13:g.30651811A>G , CM000669.1:g.30651811A>G	GRCh37
NC_000007.12:g.30618336A>G	NCBI36
NG_007942.1:g.22631A>G , LRG_243:g.22631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.981A>G MANE Select	ENSP00000373918.3:p.Gly327=
ENST00000444666.6:c.981A>G	ENSP00000415447.2:p.Gly327=
ENST00000470392.2:n.1071A>G
ENST00000478124.6:n.1044A>G
ENST00000485784.2:n.1060A>G
ENST00000674616.1:c.*695A>G	ENSP00000502408.1:n.*695A>G
ENST00000674643.1:c.981A>G	ENSP00000501636.1:p.Gly327=
ENST00000674734.1:n.1477A>G
ENST00000674737.1:c.*319A>G	ENSP00000502464.1:n.*319A>G
ENST00000674807.1:c.981A>G	ENSP00000502814.1:p.Gly327=
ENST00000674815.1:c.612A>G	ENSP00000502799.1:p.Gly204=
ENST00000674851.1:c.612A>G	ENSP00000502451.1:p.Gly204=
ENST00000674969.1:n.2854A>G
ENST00000675051.1:c.780A>G	ENSP00000502296.1:p.Gly260=
ENST00000675529.1:c.*851A>G	ENSP00000501655.1:n.*851A>G
ENST00000675587.1:n.997A>G
ENST00000675651.1:c.981A>G	ENSP00000502513.1:p.Gly327=
ENST00000675693.1:c.813A>G	ENSP00000502174.1:p.Gly271=
ENST00000675810.1:c.879A>G	ENSP00000502743.1:p.Gly293=
ENST00000675859.1:c.981A>G	ENSP00000502033.1:p.Gly327=
ENST00000675863.1:n.989A>G
ENST00000675886.1:n.7021A>G
ENST00000676088.1:c.*923A>G	ENSP00000501884.1:n.*923A>G
ENST00000676140.1:c.981A>G	ENSP00000502571.1:p.Gly327=
ENST00000676164.1:c.*432A>G	ENSP00000501986.1:n.*432A>G
ENST00000676210.1:c.*270A>G	ENSP00000502373.1:n.*270A>G
ENST00000676259.1:c.*413A>G	ENSP00000501980.1:n.*413A>G
ENST00000676403.1:c.981A>G	ENSP00000502681.1:p.Gly327=
ENST00000389266.7:c.981A>G	ENSP00000373918.3:p.Gly327=
ENST00000478124.5:n.1019A>G
NM_001316772.1:c.819A>G	NP_001303701.1:p.Gly273=
NM_002047.2:c.981A>G , LRG_243t1:c.981A>G	NP_002038.2:p.Gly327=
NM_002047.3:c.981A>G	NP_002038.2:p.Gly327=
XM_006715686.1:c.612A>G	XP_006715749.1:p.Gly204=
XM_006715686.2:c.612A>G	XP_006715749.1:p.Gly204=
NM_002047.4:c.981A>G MANE Select	NP_002038.2:p.Gly327=